RHO, rhodopsin, 6010

N. diseases: 178; N. variants: 71
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 1 44 0.910 None 1.000 35 44 1990 2018
CUI: C1864869
Disease: Night Blindness, Congenital Stationary, Autosomal Dominant 1
Night Blindness, Congenital Stationary, Autosomal Dominant 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 1 5 0.900 limited 1.000 11 5 1993 2011
CUI: C3825718
Disease: Retina--Diseases
Retina--Diseases 		group Disease or Syndrome 1 0.010 None 1.000 1 1987 1987
CUI: C4280422
Disease: Bilateral nanophthalmos
Bilateral nanophthalmos 		disease Congenital Abnormality 1 1 0.010 None 1.000 1 1 2019 2019
CUI: C4016366
Disease: RETINITIS PIGMENTOSA 4, AUTOSOMAL RECESSIVE
RETINITIS PIGMENTOSA 4, AUTOSOMAL RECESSIVE 		disease Finding 1 3 0.100 None 0 3
CUI: C1272174
Disease: Scotopic sensitivity
Scotopic sensitivity 		disease Disease or Syndrome 2 0.020 None 1.000 2 1987 1988
CUI: C4477018
Disease: Sectoral retinitis pigmentosa
Sectoral retinitis pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 2 1 0.020 None 1.000 2 1991 2014
CUI: C4023678
Disease: Monocular strabismus
Monocular strabismus 		phenotype Eye Diseases; Nervous System Diseases Finding 2 2 0.100 None 0 1
CUI: C4024762
Disease: Pattern dystrophy of the retina
Pattern dystrophy of the retina 		disease Eye Diseases Disease or Syndrome 4 0.010 None 1.000 1 1996 1996
CUI: C4072991
Disease: Yellow/white lesions of the retina
Yellow/white lesions of the retina 		phenotype Finding 4 0.100 None 0
CUI: C0240897
Disease: Retinal exudates
Retinal exudates 		phenotype Finding 5 1 0.100 None 0 1
CUI: C4722277
Disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 2
NEUROPATHY, CONGENITAL HYPOMYELINATING, 2 		disease Disease or Syndrome 5 9 0.100 None 0 1
CUI: C0012746
Disease: Dissociative disorder
Dissociative disorder 		group Mental Disorders Mental or Behavioral Dysfunction 6 1 0.010 None 1.000 1 2017 2017
CUI: C0029128
Disease: Optic Disk Drusen
Optic Disk Drusen 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 6 3 0.100 None 0 1
CUI: C0239119
Disease: Lenticonus
Lenticonus 		disease Congenital Abnormality 6 1 0.100 None 0
CUI: C0423420
Disease: Absent foveal reflex
Absent foveal reflex 		phenotype Finding 6 0.100 None 0
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 7 22 0.010 None 1.000 1 1996 1996
CUI: C1879328
Disease: Blindness both eyes NOS (disorder)
Blindness both eyes NOS (disorder) 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 7 0.010 None 1.000 1 2016 2016
CUI: C4024760
Disease: Progressive visual field defects
Progressive visual field defects 		phenotype Finding 7 0.100 None 0
CUI: C1306122
Disease: Oguchi disease
Oguchi disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 8 7 0.090 None 1.000 9 2 1994 2016
CUI: C0311338
Disease: Fundus Albipunctatus
Fundus Albipunctatus 		disease Eye Diseases Congenital Abnormality 9 21 0.710 limited 1.000 2 1 1987 1996
CUI: C4551633
Disease: Pigmentary retinal dystrophy
Pigmentary retinal dystrophy 		disease Eye Diseases Disease or Syndrome 9 4 0.010 None 1.000 1 1987 1987
CUI: C3151111
Disease: Abnormal light- and dark-adapted electroretinogram
Abnormal light- and dark-adapted electroretinogram 		phenotype Finding 9 0.100 None 0
CUI: C1405854
Disease: Retinitis punctata albescens (disorder)
Retinitis punctata albescens (disorder) 		disease Eye Diseases Disease or Syndrome 10 10 0.720 strong 1.000 2 1 1996 2005
CUI: C3551052
Disease: Night blindness, stationary
Night blindness, stationary 		disease Disease or Syndrome 10 0.020 None 1.000 2 1996 2004